Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer After Subcapsular Renal Hematoma

Abstract

Introduction

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant genetic disorder. We report a case diagnosed with HLRCC following a subcapsular renal hematoma caused by a tumor.

Case Presentation

A 28-year-old woman with a history of uterine myomas presented with left back pain. Computed tomography revealed a renal mass with a subcapsular hematoma, and coil embolization was performed. The tumor had enlarged rapidly, and ¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography revealed significant ¹⁸F-fluorodeoxyglucose uptake, suggesting malignancy. Subsequently, robot-assisted radical nephrectomy was performed. Histopathological examination confirmed papillary renal carcinoma (Stage pT2aN0M0). Fumarate hydratase immunostaining was negative, and a fumarate hydratase gene pathogenic germline variant confirmed the HLRCC diagnosis. No recurrence has been reported for 2 years since the surgery.

Conclusion

A combination of imaging tests using multiple modalities and close follow-ups contributed to establishing an accurate diagnosis and providing early definitive treatment.